Incidental Mutation 'IGL02934:Manba'
ID |
364212 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Manba
|
Ensembl Gene |
ENSMUSG00000028164 |
Gene Name |
mannosidase, beta A, lysosomal |
Synonyms |
B930014J03Rik, Bmn, 2410030O07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL02934
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135250510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 379
(V379A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029814]
[ENSMUST00000131610]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029814
AA Change: V379A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029814 Gene: ENSMUSG00000028164 AA Change: V379A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_2_N
|
42 |
211 |
6.5e-11 |
PFAM |
Pfam:Glyco_hydro_2_C
|
340 |
595 |
3.8e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123061
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131610
|
SMART Domains |
Protein: ENSMUSP00000122148 Gene: ENSMUSG00000028164
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_2_N
|
22 |
163 |
1.8e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147872
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,956,008 (GRCm39) |
R716* |
probably null |
Het |
Abca8a |
A |
T |
11: 109,931,414 (GRCm39) |
N1246K |
probably damaging |
Het |
Acadl |
A |
G |
1: 66,876,134 (GRCm39) |
Y396H |
probably benign |
Het |
Apol7c |
A |
T |
15: 77,410,318 (GRCm39) |
S209R |
possibly damaging |
Het |
Atp1a1 |
A |
T |
3: 101,484,308 (GRCm39) |
C990* |
probably null |
Het |
Cachd1 |
C |
T |
4: 100,825,295 (GRCm39) |
S583L |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,374,497 (GRCm39) |
T48A |
probably benign |
Het |
Ccdc138 |
G |
T |
10: 58,409,402 (GRCm39) |
|
probably benign |
Het |
Cenpe |
A |
G |
3: 134,970,112 (GRCm39) |
E2231G |
probably damaging |
Het |
Cog3 |
T |
C |
14: 75,979,129 (GRCm39) |
I206V |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,836,633 (GRCm39) |
|
probably benign |
Het |
Ctdspl2 |
T |
C |
2: 121,809,490 (GRCm39) |
V147A |
probably damaging |
Het |
Cyp4f13 |
A |
G |
17: 33,148,845 (GRCm39) |
V300A |
probably damaging |
Het |
Dkk3 |
A |
T |
7: 111,749,954 (GRCm39) |
M72K |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,900,944 (GRCm39) |
F340L |
probably benign |
Het |
Fut1 |
A |
G |
7: 45,268,127 (GRCm39) |
H27R |
possibly damaging |
Het |
Igkv4-80 |
A |
G |
6: 68,993,840 (GRCm39) |
V17A |
probably benign |
Het |
Igkv9-123 |
G |
A |
6: 67,931,380 (GRCm39) |
P62L |
possibly damaging |
Het |
Kmt2e |
T |
C |
5: 23,702,882 (GRCm39) |
S1021P |
probably damaging |
Het |
Krt13 |
A |
C |
11: 100,009,910 (GRCm39) |
L320R |
probably damaging |
Het |
Ldhal6b |
T |
C |
17: 5,467,819 (GRCm39) |
T372A |
probably benign |
Het |
Map1b |
C |
T |
13: 99,571,639 (GRCm39) |
V361I |
probably benign |
Het |
Map4k1 |
A |
G |
7: 28,693,531 (GRCm39) |
S399G |
probably benign |
Het |
Mff |
G |
A |
1: 82,724,815 (GRCm39) |
R229H |
probably damaging |
Het |
Naga |
T |
C |
15: 82,214,401 (GRCm39) |
N370S |
possibly damaging |
Het |
Ncor2 |
A |
T |
5: 125,102,621 (GRCm39) |
M2045K |
probably benign |
Het |
Nipal1 |
T |
C |
5: 72,805,250 (GRCm39) |
L7P |
probably damaging |
Het |
Or10p22 |
T |
A |
10: 128,825,958 (GRCm39) |
M59K |
probably damaging |
Het |
Pcmt1 |
A |
T |
10: 7,516,491 (GRCm39) |
M187K |
probably benign |
Het |
Perp |
A |
T |
10: 18,731,520 (GRCm39) |
T160S |
probably damaging |
Het |
Rapgef6 |
G |
A |
11: 54,516,690 (GRCm39) |
D169N |
probably damaging |
Het |
Sel1l |
G |
A |
12: 91,776,710 (GRCm39) |
Q711* |
probably null |
Het |
Septin5 |
T |
C |
16: 18,448,581 (GRCm39) |
Y7C |
probably damaging |
Het |
Spdya |
A |
T |
17: 71,863,395 (GRCm39) |
N48I |
probably benign |
Het |
Stard6 |
T |
A |
18: 70,629,175 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,025,200 (GRCm39) |
V396A |
probably benign |
Het |
Tcaf3 |
T |
G |
6: 42,570,832 (GRCm39) |
M307L |
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,938,778 (GRCm39) |
N757D |
probably benign |
Het |
Tgm1 |
T |
A |
14: 55,947,446 (GRCm39) |
D305V |
probably damaging |
Het |
Themis2 |
T |
A |
4: 132,516,862 (GRCm39) |
M213L |
probably damaging |
Het |
Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
Tmem214 |
A |
G |
5: 31,028,888 (GRCm39) |
E159G |
probably benign |
Het |
Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
Tshz1 |
A |
T |
18: 84,031,215 (GRCm39) |
S1064R |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,268,266 (GRCm39) |
E983K |
possibly damaging |
Het |
Vmn1r23 |
A |
T |
6: 57,902,914 (GRCm39) |
I288N |
probably benign |
Het |
Vmn2r97 |
T |
C |
17: 19,149,947 (GRCm39) |
V445A |
probably benign |
Het |
Whrn |
G |
A |
4: 63,334,342 (GRCm39) |
T813M |
probably damaging |
Het |
Xirp2 |
C |
T |
2: 67,346,020 (GRCm39) |
H2754Y |
probably benign |
Het |
|
Other mutations in Manba |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01374:Manba
|
APN |
3 |
135,260,541 (GRCm39) |
nonsense |
probably null |
|
IGL01443:Manba
|
APN |
3 |
135,250,589 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01796:Manba
|
APN |
3 |
135,248,150 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02396:Manba
|
APN |
3 |
135,250,525 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02471:Manba
|
APN |
3 |
135,212,769 (GRCm39) |
splice site |
probably benign |
|
IGL02809:Manba
|
APN |
3 |
135,253,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02861:Manba
|
APN |
3 |
135,276,024 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03130:Manba
|
APN |
3 |
135,256,920 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03237:Manba
|
APN |
3 |
135,250,512 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03342:Manba
|
APN |
3 |
135,223,748 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0551:Manba
|
UTSW |
3 |
135,223,734 (GRCm39) |
missense |
probably damaging |
0.98 |
R1549:Manba
|
UTSW |
3 |
135,250,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R1752:Manba
|
UTSW |
3 |
135,212,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Manba
|
UTSW |
3 |
135,250,501 (GRCm39) |
missense |
probably benign |
0.01 |
R1991:Manba
|
UTSW |
3 |
135,256,952 (GRCm39) |
missense |
probably benign |
0.05 |
R3729:Manba
|
UTSW |
3 |
135,260,611 (GRCm39) |
missense |
probably benign |
0.00 |
R3731:Manba
|
UTSW |
3 |
135,260,611 (GRCm39) |
missense |
probably benign |
0.00 |
R3813:Manba
|
UTSW |
3 |
135,269,023 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4712:Manba
|
UTSW |
3 |
135,250,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R5001:Manba
|
UTSW |
3 |
135,273,391 (GRCm39) |
missense |
probably benign |
0.00 |
R5481:Manba
|
UTSW |
3 |
135,230,317 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5889:Manba
|
UTSW |
3 |
135,230,359 (GRCm39) |
nonsense |
probably null |
|
R6033:Manba
|
UTSW |
3 |
135,255,022 (GRCm39) |
missense |
probably benign |
0.00 |
R6033:Manba
|
UTSW |
3 |
135,255,022 (GRCm39) |
missense |
probably benign |
0.00 |
R6434:Manba
|
UTSW |
3 |
135,217,734 (GRCm39) |
splice site |
probably null |
|
R6760:Manba
|
UTSW |
3 |
135,248,212 (GRCm39) |
missense |
probably damaging |
0.98 |
R7164:Manba
|
UTSW |
3 |
135,248,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R7182:Manba
|
UTSW |
3 |
135,273,274 (GRCm39) |
missense |
probably benign |
0.06 |
R7184:Manba
|
UTSW |
3 |
135,228,915 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7212:Manba
|
UTSW |
3 |
135,273,396 (GRCm39) |
missense |
probably benign |
|
R7266:Manba
|
UTSW |
3 |
135,223,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R7271:Manba
|
UTSW |
3 |
135,248,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:Manba
|
UTSW |
3 |
135,248,154 (GRCm39) |
missense |
probably benign |
0.13 |
R7467:Manba
|
UTSW |
3 |
135,250,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R7542:Manba
|
UTSW |
3 |
135,272,354 (GRCm39) |
missense |
probably benign |
0.10 |
R7546:Manba
|
UTSW |
3 |
135,276,007 (GRCm39) |
missense |
probably benign |
0.01 |
R7726:Manba
|
UTSW |
3 |
135,223,770 (GRCm39) |
missense |
probably benign |
0.14 |
R8475:Manba
|
UTSW |
3 |
135,217,573 (GRCm39) |
missense |
probably benign |
0.13 |
R8768:Manba
|
UTSW |
3 |
135,256,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R8856:Manba
|
UTSW |
3 |
135,223,764 (GRCm39) |
missense |
probably damaging |
0.98 |
R9140:Manba
|
UTSW |
3 |
135,191,490 (GRCm39) |
missense |
probably benign |
|
R9449:Manba
|
UTSW |
3 |
135,255,079 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Manba
|
UTSW |
3 |
135,269,035 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-12-18 |